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Select item 112025051.

A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene

Gloria Fraga, M. Alba Herreros, Marc Pybus, Miriam Aza-Carmona, Melissa Pilco-Teran, Mónica Furlano, M. José García-Borau, Roser Torra, Elisabet Ars

Genes (Basel) 2024 Jun; 15(6): 679. Published online 2024 May 24. doi: 10.3390/genes15060679

PMCID:: PMC11202505

Abstract Article PDF–509K

Select item 101989392.

X-Linked Hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant

Julio Soto Barros, Sabrina I. Sanchez, Kristin Cabral, Alan H. Beggs, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Thomas O. Carpenter

Bone. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: Bone. 2023 Apr 13; 172: 116763. Published online 2023 Apr 13. doi: 10.1016/j.bone.2023.116763

PMCID:: PMC10198939

Abstract Article PDF–760K

Select item 92996123.

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)

Soodabeh Sarafrazi, Sean C. Daugherty, Nicole Miller, Patrick Boada, Thomas O. Carpenter, Lauren Chunn, Kariena Dill, Michael J. Econs, Scott Eisenbeis, Erik A. Imel, Britt Johnson, Mark J. Kiel, Stan Krolczyk, Prameela Ramesan, Rebecca Truty, Yves Sabbagh

Hum Mutat. 2022 Feb; 43(2): 143–157. Published online 2021 Dec 5. doi: 10.1002/humu.24296

PMCID:: PMC9299612

Abstract Article PDF–2.9M

Select item 74347424.

A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family

Baowei Li, Xiong Wang, Xiaodan Hao, Yanran Liu, Yin Wang, Chan Shan, Xiang Ao, Ying Liu, HongChu Bao, Peifeng Li

Mol Genet Genomic Med. 2020 Aug; 8(8): e1262. Published online 2020 Jun 8. doi: 10.1002/mgg3.1262

PMCID:: PMC7434742

Abstract Article PDF–1.2M

Select item 73891395.

2例X-连锁低血磷性佝偻病患者PHEX基因新发突变的研究

冉情, 熊丰, 朱岷, 邓蕾丽, 雷培芸, 罗雁红, 曾燕, 朱高慧, 宋萃

Zhongguo Dang Dai Er Ke Za Zhi. 2017 May 25; 19(5): 534–538. Chinese. doi: 10.7499/j.issn.1008-8830.2017.05.011

PMCID:: PMC7389139

Abstract Article PDF–1.6M

Select item 64295676.

Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures

B.R. Coyac, B. Hoac, P. Chafey, G. Falgayrac, L. Slimani, P.S. Rowe, G. Penel, A. Linglart, M.D. McKee, C. Chaussain, C. Bardet

J Dent Res. 2018 Feb; 97(2): 184–191. Published online 2017 Sep 7. doi: 10.1177/0022034517728497

PMCID:: PMC6429567

Abstract Article PDF–1.6M

Select item 61331877.

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations

Douglas Chesher, Michael Oddy, Ulpee Darbar, Parag Sayal, Adrian Casey, Aidan Ryan, Annalisa Sechi, Charlotte Simister, Aoife Waters, Yehani Wedatilake, Robin H. Lachmann, Elaine Murphy

J Inherit Metab Dis. 2018; 41(5): 865–876. Published online 2018 Feb 19. doi: 10.1007/s10545-018-0147-6

PMCID:: PMC6133187

Abstract Article PDF–3.6M

Select item 58102338.

Two novel variants of the PHEX gene in patients with X-linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families

Hong Liao, Hong-Mei Zhu, Hong-Qian Liu, Ling-Ping Li, Shan-Ling Liu, He Wang

Int J Mol Med. 2018 Apr; 41(4): 2012–2020. Published online 2018 Jan 18. doi: 10.3892/ijmm.2018.3402

PMCID:: PMC5810233

Abstract Article PDF–778K

Select item 51177729.

Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets

Shan-Shan Li, Jie-Mei Gu, Wei-Jia Yu, Jin-Wei He, Wen-Zhen Fu, Zhen-Lin Zhang

Int J Mol Med. 2016 Dec; 38(6): 1703–1714. Published online 2016 Nov 7. doi: 10.3892/ijmm.2016.2796

PMCID:: PMC5117772

Abstract Article PDF–1.3M

Select item 456628610.

Downregulation of PHEX in multibacillary leprosy patients: observational cross-sectional study

Sandra R. Boiça Silva, Ximena Illarramendi, Antonio J. Tempone, Pedro H. L. Silva, José A. C. Nery, Alexandra M. V. Monteiro, Maria Cristina V. Pessolani, Edson Boasquevisque, Euzenir N. Sarno, Geraldo M. B. Pereira, Danuza Esquenazi

J Transl Med. 2015; 13: 296. Published online 2015 Sep 11. doi: 10.1186/s12967-015-0651-5

PMCID:: PMC4566286

Abstract Article PDF–1.2M

Select item 447959311.

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

Sara L. Ma, Virginia Vega-Warner, Christopher Gillies, Matthew G. Sampson, Vijay Kher, Sidharth K. Sethi, Edgar A. Otto

PLoS One. 2015; 10(6): e0130729. Published online 2015 Jun 24. doi: 10.1371/journal.pone.0130729

PMCID:: PMC4479593

Abstract Article PDF–1.4M

Select item 402400012.

Identification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia

Hua Yue, Jin-bo Yu, Jin-wei He, Zeng Zhang, Wen-zhen Fu, Hao Zhang, Chun Wang, Wei-wei Hu, Jie-mei Gu, Yun-qiu Hu, Miao Li, Yu-juan Liu, Zhen-Lin Zhang

PLoS One. 2014; 9(5): e97830. Published online 2014 May 16. doi: 10.1371/journal.pone.0097830

PMCID:: PMC4024000

Abstract Article PDF–935K

Select item 336299713.

Regulation of Bone–Renal Mineral and Energy Metabolism: The PHEX, FGF23, DMP1, MEPE ASARM Pathway

Peter S. N. Rowe

Crit Rev Eukaryot Gene Expr. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Crit Rev Eukaryot Gene Expr. 2012; 22(1): 61–86. doi: 10.1615/critreveukargeneexpr.v22.i1.50

PMCID:: PMC3362997

Abstract Article PDF–9.7M

Select item 336189414.

The Wrickkened Pathways Of FGF23, MEPE and PHEX

Peter S.N. Rowe

Crit Rev Oral Biol Med. Author manuscript; available in PMC 2012 May 29.

Published in final edited form as: Crit Rev Oral Biol Med. 2004 Sep 1; 15(5): 264–281. Published online 2004 Sep 1. doi: 10.1177/154411130401500503

PMCID:: PMC3361894

Abstract Article PDF–2.7M

Select item 318911115.

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)₂D serum levels are associated with PHEX mutation type

Marcos Morey, Lidia Castro-Feijóo, Jesús Barreiro, Paloma Cabanas, Manuel Pombo, Marta Gil, Ignacio Bernabeu, José M Díaz-Grande, Lourdes Rey-Cordo, Gema Ariceta, Itxaso Rica, José Nieto, Ramón Vilalta, Loreto Martorell, Jaime Vila-Cots, Fernando Aleixandre, Ana Fontalba, Leandro Soriano-Guillén, José M García-Sagredo, Sixto García-Miñaur, Berta Rodríguez, Saioa Juaristi, Carmen García-Pardos, Antonio Martínez-Peinado, José M Millán, Ana Medeira, Oana Moldovan, Angeles Fernandez, Lourdes Loidi

BMC Med Genet. 2011; 12: 116. Published online 2011 Sep 8. doi: 10.1186/1471-2350-12-116